Xeroderma pigmentosum A (Q92835): Difference between revisions
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Xeroderma pigmentoso do grupo de complementação A (XPA) é uma forma grave de xeroderma pigmentoso (XP), uma fotodermatose rara que predispõe a cânceres de pele e mostra manifestações XP típicas (fotossensibilidade da pele com queimadura, sardas e cânceres de pele) associada a um espectro de anomalias neurológicas leves a graves (p.ex., deterioração cognitiva, disartria, distúrbio do equilíbrio, arreflexia) e, às vezes, retardo do crescimento e do desenvolvimento sexual. | |||
| description / en | description / en | ||
Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers, and shows typical XP manifestations (photosensitivity of skin with burning, freckling, and skin cancers) associated with a spectrum of mild to severe neurological anomalies (e.g. cognitive deterioration, dysarthria, balance disturbance, areflexia) and sometimes delay of growth and sexual development. | |||
Revision as of 07:57, 16 August 2026
Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers, and shows typical XP manifestations (photosensitivity of skin with burning, freckling, and skin cancers) associated with a spectrum of mild to severe neurological anomalies (e.g. cognitive deterioration, dysarthria, balance disturbance, areflexia) and sometimes delay of growth and sexual development.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_502959160 |
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| English | Xeroderma pigmentosum A |
Xeroderma pigmentosum complementation group A (XPA) is a severe form of xeroderma pigmentosum (XP), a rare photodermatosis predisposing to skin cancers, and shows typical XP manifestations (photosensitivity of skin with burning, freckling, and skin cancers) associated with a spectrum of mild to severe neurological anomalies (e.g. cognitive deterioration, dysarthria, balance disturbance, areflexia) and sometimes delay of growth and sexual development. |
